Cor Vasa 2003, 44(9):459-462
Homocystinuria detected in the ICU in a patient with Q-wave myocardial infarction using selective screening for homocysteine
- 1 Oddělení klinické biochemie, Metabolická ambulance
- 2 Koronární jednotka kardiologického oddělení, Nemocnice Na Homolce
- 3 Ústav dědičných metabolických poruch
- 4 Klinika dětí a dorostu, Všeobecná fakultní nemocnice a 1. lékařská fakulta Univerzity Karlovy, Praha, Česká republika
The authors describe a typical case of homocystinuria-inherited metabolic disorder manifesting itself in a 40-year-old patient suffering from typical Q-wave myocardial infarction when undergoing selective screening for homocystein on an ICU. After successful percutaneous transluminal coronary angioplasty (PTCA), enzymatic investigation of low cystathionine-beta-synthase activity in fibroblasts demonstrated conventional homocystinuria. Total cholesterol and other lipid parameters were within the normal range.
Keywords: Homocystinuria; Q-wave myocardial infarction; Hyperhomocysteinemia; Selective screening
Published: September 1, 2003 Show citation
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